Results 161 to 170 of about 10,451,845 (193)
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Copy number variations in chronic pancreatitis
Cytogenetic and Genome Research, 2008In 1996, shortly after a locus for hereditary pancreatitis had been mapped to chromosome 7q35, an apparent gain-of-function missense mutation, p.R122H, in the cationic trypsinogen gene (<i>PRSS1</i>) was identified. Thereafter, the search for chronic pancreatitis-associated genetic factors has been largely focused on one form of genetic ...
J M, Chen +3 more
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Copy number variation in metabolic phenotypes
Cytogenetic and Genome Research, 2008Despite successes in identifying genetic contributors to common metabolic phenotypes, only part of the heritable component of these traits has thus far been explained. Copy number variation (CNV) is likely to be responsible for some of the unexplained variation.
M, Lanktree, R A, Hegele
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Copy number variation in the domestic dog
Mammalian Genome, 2011Differences in the content and organization of DNA, collectively referred to as structural variation, have emerged as a major source of genetic and phenotypic diversity within and between species. In addition, structural variation provides an important substrate for evolutionary innovations. Here, we review recent progress in characterizing patterns of
Carlos E, Alvarez, Joshua M, Akey
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Copy Number Variations in Tilapia Genomes
Marine Biotechnology, 2017Discovering the nature and pattern of genome variation is fundamental in understanding phenotypic diversity among populations. Although several millions of single nucleotide polymorphisms (SNPs) have been discovered in tilapia, the genome-wide characterization of larger structural variants, such as copy number variation (CNV) regions has not been ...
Bi Jun, Li +6 more
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Copy number variations and fetal ventriculomegaly
Current Opinion in Obstetrics & Gynecology, 2018Purpose of review Ventriculomegaly is one of the most common abnormal sonographic findings, which is associated with congenital infection, chromosomal and additional structural abnormalities. Currently, karyotype analysis is the primary method to detect chromosomal abnormalities in fetuses with ventriculomegaly.
Yan, Wang, Ping, Hu, Zhengfeng, Xu
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Copy number variation in the cattle genome
Functional & Integrative Genomics, 2012Copy number variations (CNVs) are gains and losses of genomic sequence greater than 50 bp between two individuals of a species. While single nucleotide polymorphisms (SNPs) are more frequent, CNVs impact a higher percentage of genomic sequence and have potentially greater effects, including the changing of gene structure and dosage, altering gene ...
George E, Liu, Derek M, Bickhart
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Copy number variation in the autism genome
Expert Opinion on Medical Diagnostics, 2008Autism spectrum disorders (ASDs) are among the most heritable of all neurodevelopmental disorders. Despite intense research there has been limited success in deciphering the etiology of ASDs.It has been shown that chromosomal rearrangements play an important role in ASDs.
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Bioinformatics for Copy Number Variation Data
2011Copy number variation is known to be an important component of structural variation in the human genome. Greater than 1 kb in size, these gains and losses of genetic material are known to confer risk to many human diseases, both Mendelian and complex. Therefore, the technologies used to detect copy number variation have been quickly improving in both ...
Melissa, Warden +3 more
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Gene copy number variation in schizophrenia
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2007AbstractRecent reports have highlighted the possibility that gene copy number variations play a role in the development of complex disorders and have suggested that some variations are very common in schizophrenic patients. We have carried out a comparative genomic hybridization screen using oligonucleotide probes of 891 candidate genes to look for ...
Smitha R, Sutrala +3 more
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